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A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

hHbl gene is active in hair shaft cells and some pilomatricomas.

High homocysteine levels in lupus may increase inflammation and cardiovascular risk.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.

A patient in Portugal with chronic pulmonary histoplasmosis had a complex medical history and environmental exposures.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Hirsutism is excessive hair growth in women often caused by polycystic ovarian syndrome, and identifying the cause is important for managing associated health risks.

Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.

Hair cortisol is a reliable way to measure long-term stress in animals.

Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.

Antiandrogen therapy may help treat hidradenitis suppurativa.

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.

Spironolactone is an effective and well-tolerated first-line treatment for hidradenitis suppurativa in women.

Most women with excess hair growth had Polycystic Ovary Syndrome, and severity wasn't linked to hormone levels.

People with hidradenitis suppurativa who are more resilient tend to have better quality of life and less anxiety and depression.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Hirsutism often links to polycystic ovary syndrome and high testosterone, needing thorough investigation.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

PCOS is the main cause of hirsutism, often linked to insulin resistance.

A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.

Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.

Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.

Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.